Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy

Michael Arad; Ivan P Moskowitz; Vickas V Patel; Ferhaan Ahmad; Antonio R Perez-Atayde; Douglas B Sawyer; Mark Walter; Guo H Li; Patrick G Burgon; Colin T Maguire; David Stapleton; Joachim P Schmitt; X X Guo; Anne Pizard; Sabina Kupershmidt; Dan M Roden; Charles I Berul; Christine E Seidman; J G Seidman

doi:10.1161/01.CIR.0000075270.13497.2B

Back

Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy

Journal article

Open access

Peer reviewed

Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy

Michael Arad, Ivan P Moskowitz, Vickas V Patel, Ferhaan Ahmad, Antonio R Perez-Atayde, Douglas B Sawyer, Mark Walter, Guo H Li, Patrick G Burgon, Colin T Maguire, …

Circulation (New York, N.Y.), Vol.107(22), pp.2850-2856

06/10/2003

DOI: 10.1161/01.CIR.0000075270.13497.2B

PMID: 12782567

Files and links (1)

url

https://doi.org/10.1161/01.CIR.0000075270.13497.2BView

Published (Version of record) Open Access

Abstract

Mutations in the gamma2 subunit (PRKAG2) of AMP-activated protein kinase produce an unusual human cardiomyopathy characterized by ventricular hypertrophy and electrophysiological abnormalities: Wolff-Parkinson-White syndrome (WPW) and progressive degenerative conduction system disease. Pathological examinations of affected human hearts reveal vacuoles containing amylopectin, a glycogen-related substance.

Mutation

Glycogen Storage Disease - complications

Wolff-Parkinson-White Syndrome - physiopathology

Humans

Multienzyme Complexes - metabolism

AMP-Activated Protein Kinases

Cardiomyopathies - physiopathology

Glycogen Storage Disease - pathology

Electrocardiography

Glycogen Storage Disease - physiopathology

Protein-Serine-Threonine Kinases - metabolism

Disease Models, Animal

Protein-Serine-Threonine Kinases - genetics

Cardiomyopathies - pathology

Mice, Transgenic

Myocardium - pathology

Survival Rate

Wolff-Parkinson-White Syndrome - pathology

Multienzyme Complexes - genetics

Protein-Serine-Threonine Kinases - biosynthesis

Wolff-Parkinson-White Syndrome - etiology

Animals

Heart Conduction System - physiopathology

Cardiomyopathies - complications

Multienzyme Complexes - biosynthesis

Mice

Electrophysiologic Techniques, Cardiac

Details

Title: Subtitle: Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy
Creators: Michael Arad - Department of Genetics, Harvard Medical School and Howard Hughes Medical Institute, 200 Longwood Ave, Boston, Mass 02115, USA
Ivan P Moskowitz
Vickas V Patel
Ferhaan Ahmad
Antonio R Perez-Atayde
Douglas B Sawyer
Mark Walter
Guo H Li
Patrick G Burgon
Colin T Maguire
David Stapleton
Joachim P Schmitt
X X Guo
Anne Pizard
Sabina Kupershmidt
Dan M Roden
Charles I Berul
Christine E Seidman
J G Seidman
Resource Type: Journal article
Publication Details: Circulation (New York, N.Y.), Vol.107(22), pp.2850-2856
DOI: 10.1161/01.CIR.0000075270.13497.2B
PMID: 12782567
NLM abbreviation: Circulation
ISSN: 0009-7322
eISSN: 1524-4539
Publisher: Lippincott Williams & Wilkins; United States
Grant note: HL-46681 / NHLBI NIH HHS
Language: English
Date published: 06/10/2003
Academic Unit: Radiology; Molecular Physiology and Biophysics; Cardiovascular Medicine; Fraternal Order of Eagles Diabetes Research Center; Internal Medicine
Record Identifier: 9984025684702771

Metrics

34 Record Views

257 Times Cited - Web of Science